Submissions for variant NM_001374353.1(GLI2):c.720C>T (p.Asp240=)

gnomAD frequency: 0.00483  dbSNP: rs142793481

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243463	SCV000310992	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000243463	SCV000334341	benign	not specified	2015-09-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000291688	SCV000416182	benign	Holoprosencephaly 9	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812728	SCV000883949	benign	not provided	2020-01-20	criteria provided, single submitter	clinical testing
Invitae	RCV000756206	SCV001012586	benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2024-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001812728	SCV002576262	likely benign	not provided	2021-03-14	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen	RCV001812728	SCV004149096	benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	GLI2: BP4, BP7, BS1, BS2
Clinical Genetics, Academic Medical Center	RCV000243463	SCV001923444	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000243463	SCV001965717	benign	not specified		no assertion criteria provided	clinical testing